Dr J C Pompe

Dr J C Pompe
Discoverer of Pompe disease

About this blog

What you can read here is the story of the development of enzyme replacement therapy (ERT), the first effective treatment for Pompe disease. It is an incredible story, rich with events, characters and science. Above all, it is the story of an international community of scientists, doctors, patients and companies, working together towards a common goal.

It is not a story that features in Geeta Anand's book, The Cure , or the film based on it, Extraordinary Measures despite the fact that they are ostensibly about the development of ERT for Pompe ( you can link straight to the relevant articles covering the events described in the book and film here, here and here).

This blog represents my small attempt to set the record straight and to give the story back to its rightful owners - the international Pompe community. It is written here in roughly chronological order i.e. you'll need to start at the bottom of the April 2009 archive page and work your way up.

It is also a personal account and, although I've tried to make it as objective as possible, there is an inevitable degree of subjectivity. For that reason I have included contributions from other members of the worldwide Pompe community and would be delighted to receive more. Feedback is also welcome.

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Sunday, 17 January 2010

2002 - The John Crowley era

Reading through the huge number of emails, tele-conference transcripts and written notes from 2002, I find it hard to reconcile them with the account of this year in The Cure.

In fact, I think that the account in The Cure, in its rush to airbrush the patient community out of the picture, sells John Crowley short somewhat.

In general, I do think that John succeeded in bringing some of the Novazyme philosophy to Genzyme.  In a lengthy  transcript from 26 February 2002, of a teleconference between John Crowley, Jan van Heek and the IPA Board, I am struck by the new-found openness shown by Genzyme. They went into great detail about their plans - information that was in confidence and commercially sensitive. Regulatory-sensitive too.  There was a lot of trust, openness and good humour. Something had changed for the better and was going right. I, for one, am happy to give John Crowley the credit for that.

The exciting news was that good progress had been made with manufacturing. By the end of 2002, supply of enzyme was no longer expected to be a bottleneck, opening the way to larger trials.

This new positive relationship (a complete change-around from the nadir of September 2001) was cemented by a visit of the IPA Board to Genzyme's HQ near Boston, in April 2002.

We were back on track.

1 comment:

  1. Hello Kevin, thank you very much for sharing your history and point of view with all of us. I am very closer to Gaucher's Community and your history helps a lot. Regards from Spain